IFT57 (intraflagellar transport 57)

2016-10-01  

Identity

HGNC
IFT57
LOCATION
3q13.12
LOCUSID
55081
ALIAS
ESRRBL1,HIPPI,MHS4R2,OFD18
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55081
MIM: 606621
HGNC: 17367
Ensembl: ENSG00000114446

Variants:

dbSNP: 55081
ClinVar: 55081
TCGA: ENSG00000114446
COSMIC: IFT57

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114446ENST00000264538Q9NWB7
ENSG00000114446ENST00000478157F8WBM2
ENSG00000114446ENST00000492106C9JB84

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
270608902016Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.13
270608902016Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.13
218320402011Regulation of RE1 protein silencing transcription factor (REST) expression by HIP1 protein interactor (HIPPI).13
219433622011Genome wide gene expression regulation by HIP1 Protein Interactor, HIPPI: prediction and validation.8
218320402011Regulation of RE1 protein silencing transcription factor (REST) expression by HIP1 protein interactor (HIPPI).13
219433622011Genome wide gene expression regulation by HIP1 Protein Interactor, HIPPI: prediction and validation.8
181887042008BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis.10
181887042008BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis.10
171738592007Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo.6
171738592007Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo.6
163646502006Induction of apoptosis in cells expressing exogenous Hippi, a molecular partner of huntingtin-interacting protein Hip1.8
171429082006Cloning, expression, purification, crystallization and preliminary crystallographic analysis of pseudo death-effector domain of HIPPI, a molecular partner of Huntingtin-interacting protein HIP-1.1
163646502006Induction of apoptosis in cells expressing exogenous Hippi, a molecular partner of huntingtin-interacting protein Hip1.8
171429082006Cloning, expression, purification, crystallization and preliminary crystallographic analysis of pseudo death-effector domain of HIPPI, a molecular partner of Huntingtin-interacting protein HIP-1.1
127450832003The viral death protein Apoptin interacts with Hippi, the protein interactor of Huntingtin-interacting protein 1.11

Citation

Dessen P

IFT57 (intraflagellar transport 57)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56088/ift57-(intraflagellar-transport-57)